Title:Familial Hypercholesterolaemia in Children and Adolescents: Current and
Future Perspectives
Volume: 19
Issue: 3
Author(s): Francesco Martino, Francesco Barilla, Eliana Martino, Giuseppe Calcaterra, Vassilios Fanos and Pier Paolo Bassareo*
Affiliation:
- University College of Dublin, Mater Misericordiae University Hospital and Children’s Health Ireland at Crumlin, Dublin, Ireland
Keywords:
Familial hypercholesterolemia, low-density lipoprotein cholesterol, statin, ezetimibe, proprotein convertase subtilisin/ kexin type 9, lipoprotein apheresis.
Abstract: Familial hypercholesterolemia (FH) is a genetic disease, the underlying cause of which is
represented by mutations capable of influencing the metabolism of low-density lipoproteins (LDL).
The distinguishing characteristic of FH has increased LDL cholesterol blood levels since birth, triggering
early development of atherosclerosis-related diseases. Diagnosis of FH is frequently either
missed or made with a considerable delay. Prompt identification of the disease is pivotal in implementing
early prevention measures. Safe and effective drugs have been approved for use in children
and adolescents, with statins, with or without ezetimibe, representing first-line therapy. At times,
however, these medications may not be sufficient to achieve the therapeutic target, particularly in
homozygous FH patients. Lipoprotein apheresis, which has proved safe and efficient, is strongly
suggested in such cases. New drugs still at the investigational stage may represent a promising and
personalised therapy. Lowering cholesterol levels in childhood hampers the formation of arterial
atherosclerotic plaques, thus reducing cardiovascular events later in life. Accordingly, early detection,
diagnosis, and therapy in FH subjects are priority aims.
